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El análisis de la pleiotropía en todo el genoma identifica vías compartidas y opuestas que influyen en la enfermedad

James Yarmolinsky¹, Evelyn Lau², Fotios Koskeridis¹

¹Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, United Kingdom. (J.Y., F.K., M.J.G., A.D., I.T.).

Arteriosclerosis, thrombosis, and vascular biology

|August 28, 2025

Resumen

Este estudio revela factores genéticos compartidos entre la enfermedad de las arterias coronarias (CAD) y el cáncer, identificando nuevos loci y posibles objetivos farmacológicos para la prevención dual. Los hallazgos también destacan los efectos genéticos opuestos y los impactos de los medicamentos en ambas enfermedades.

Área de la Ciencia:

Genética y genómica
Biología molecular
Epidemiología

Sus antecedentes:

Las enfermedades coronarias (CAD) y el cáncer son las principales causas de mortalidad en todo el mundo.
Existen factores de riesgo modificables compartidos entre la EAC y el cáncer, pero los mecanismos genéticos y moleculares subyacentes son poco conocidos.

Objetivo del estudio:

Identificar los mecanismos genéticos compartidos entre la EAC y cuatro cánceres comunes (mama, colorrectal, pulmón y próstata) mediante el análisis de la pleiotropía en todo el genoma.
Explorar productos moleculares intermedios y objetivos terapéuticos potenciales para el riesgo de enfermedades articulares.

Principales métodos:

Se realizaron análisis de pleiotropía y colocalización de todo el genoma.
Se integraron los estudios de asociación transcriptómica, proteómica y de todo el fenómeno (biobanco del Reino Unido).
El análisis de enriquecimiento del conjunto de genes identificó patrones de loci pleiotrópicos.

Principales resultados:

Se identificaron 60 loci de susceptibilidad colocalizados para CAD y cáncer, de los cuales 43 eran nuevos.
Los resultados mostraron efectos opuestos en el riesgo de CAD y cáncer.
13 loci influyeron en el riesgo articular a través de la expresión diferencial de genes/proteínas; se encontraron 1955 asociaciones con biomarcadores/medidas clínicas.

Conclusiones:

Se destacaron los loci genéticos compartidos y opuestos entre la EAC y el cáncer.
Se proporcionaron conocimientos moleculares sobre el riesgo de enfermedad articular y la posible reutilización de fármacos para la prevención dual.
Se indicaron efectos farmacológicos divergentes en ambas condiciones.

Palabras clave:

Presión arterial Enfermedades cardiovasculares Comorbilidad Enfermedad arterial coronaria Factores de riesgo

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